WO2005037231A3 - Methodes de detection et de traitement de la myopathie facioscapulohumerale - Google Patents

Methodes de detection et de traitement de la myopathie facioscapulohumerale Download PDF

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Publication number
WO2005037231A3
WO2005037231A3 PCT/US2004/034462 US2004034462W WO2005037231A3 WO 2005037231 A3 WO2005037231 A3 WO 2005037231A3 US 2004034462 W US2004034462 W US 2004034462W WO 2005037231 A3 WO2005037231 A3 WO 2005037231A3
Authority
WO
WIPO (PCT)
Prior art keywords
muscular dystrophy
methods
detecting
facioscapulohumeral muscular
treating
Prior art date
Application number
PCT/US2004/034462
Other languages
English (en)
Other versions
WO2005037231A2 (fr
Inventor
Rossella G Tupler
Michael Green
Davide Gabellini
Original Assignee
Univ Massachusetts
Rossella G Tupler
Michael Green
Davide Gabellini
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Univ Massachusetts, Rossella G Tupler, Michael Green, Davide Gabellini filed Critical Univ Massachusetts
Publication of WO2005037231A2 publication Critical patent/WO2005037231A2/fr
Publication of WO2005037231A3 publication Critical patent/WO2005037231A3/fr

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Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6893—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids related to diseases not provided for elsewhere
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/158—Expression markers
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/28—Neurological disorders
    • G01N2800/2878—Muscular dystrophy

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Molecular Biology (AREA)
  • Analytical Chemistry (AREA)
  • Immunology (AREA)
  • Physics & Mathematics (AREA)
  • General Health & Medical Sciences (AREA)
  • Urology & Nephrology (AREA)
  • Microbiology (AREA)
  • Pathology (AREA)
  • Genetics & Genomics (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Biochemistry (AREA)
  • Hematology (AREA)
  • Biomedical Technology (AREA)
  • Biotechnology (AREA)
  • General Engineering & Computer Science (AREA)
  • Cell Biology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biophysics (AREA)
  • Food Science & Technology (AREA)
  • Medicinal Chemistry (AREA)
  • General Physics & Mathematics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Investigating Or Analysing Biological Materials (AREA)

Abstract

La présente invention concerne des méthodes et des compositions utiles pour traiter ou prévenir la myopathie facioscapulohumérale (FSH), ainsi que des modèles animaux utiles pour identifier des composés efficaces dans le traitement ou la prévention de la FSH.
PCT/US2004/034462 2003-10-14 2004-10-14 Methodes de detection et de traitement de la myopathie facioscapulohumerale WO2005037231A2 (fr)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US10/686,491 2003-10-14
US10/686,491 US20050054012A1 (en) 2002-10-11 2003-10-14 Methods of detecting and treating facioscapulohumeral muscular dystrophy

Publications (2)

Publication Number Publication Date
WO2005037231A2 WO2005037231A2 (fr) 2005-04-28
WO2005037231A3 true WO2005037231A3 (fr) 2007-09-07

Family

ID=34465503

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2004/034462 WO2005037231A2 (fr) 2003-10-14 2004-10-14 Methodes de detection et de traitement de la myopathie facioscapulohumerale

Country Status (2)

Country Link
US (1) US20050054012A1 (fr)
WO (1) WO2005037231A2 (fr)

Families Citing this family (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP2175037B1 (fr) * 2008-09-26 2017-10-11 Genomic Vision Procédé pour analyser les réseaux de répétitions en tandem du D4Z4 d'un acide nucléique et kit correspondant
US10865445B2 (en) 2010-08-18 2020-12-15 Fred Hutchinson Cancer Research Center Methods for alleviating facioscapulohumeral dystrophy (FSHD) by N siRNA molecule inhibiting the expression of DUX4-FL
WO2013120038A2 (fr) * 2012-02-10 2013-08-15 Regents Of The University Of Minnesota Morpholino ciblant le dux4 pour le traitement de la myopathie facio-scapulo-humérale
WO2013155330A1 (fr) * 2012-04-11 2013-10-17 University Of Massachusetts Compositions et procédés de caractérisation et de traitement d'une dystrophie musculaire
WO2014071340A1 (fr) * 2012-11-05 2014-05-08 University Of Washington Through Its Center For Commercialization Méthodes et dosages concernant la dystrophie musculaire facio-scapulo-humérale
EP3532605A4 (fr) 2016-10-26 2021-01-13 Sonic Master Limited Génération améliorée de cellules de lignée musculaire et leurs utilisations thérapeutiques

Non-Patent Citations (3)

* Cited by examiner, † Cited by third party
Title
BLAIR ET AL.: "Identification, characterization, and association analysis of novel genes from the bipolar disorder susceptibility locus on chromosome 4q35", PSYCHIATRIC GENETICS, vol. 15, 2005, pages 199 - 204 *
LYLE ET AL.: "The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes", GENOMICS, vol. 28, 1995, pages 389 - 397 *
WINOKUR ET AL.: "The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region", HUMAN MOLECULAR GENETICS, vol. 5, 1996, pages 1567 - 1575 *

Also Published As

Publication number Publication date
WO2005037231A2 (fr) 2005-04-28
US20050054012A1 (en) 2005-03-10

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